Metabolism

Causes

Adrenoleukodystrophy is passed down from parents to their children as an X-linked genetic trait. It therefore affects mostly males, although some women who are carriers can have milder forms of the disease. It affects approximately 1 in 20,000 people from all races.

X-linked genetic trait

Genetics is the study of heredity, the process in which a parent passes certain genes onto their children. A person's appearance -- height, hair col...

Exams and Tests

Blood levels

Chromosome study to look for changes (mutations) in the ABCD1 gene

MRI of the head

Treatment

Adrenal dysfunction is treated with steroids (such as cortisol).

A specific treatment for X-linked adrenoleukodystrophy is not available, but eating a diet low in very-long-chain fatty acids and taking special oils can lower the blood levels of very-long-chain fatty acids.

These oils are called Lorenzo's oil, after the son of the family who discovered the treatment. This treatment is being tested for X-linked adrenoleukodystrophy, but it does not cure the disease and may not help all patients.

Bone marrow transplant is also being tested as an experimental treatment.

Outlook (Prognosis)

The childhood form of X-linked adrenoleukodystrophy is a progressive disease. It leads to a long-term coma (vegetative state) about 2 years after nervous system symptoms develop. The child can live in this condition for as long as 10 years until death occurs.

The other forms of this disease are milder.

Possible Complications

Adrenal crisis

Vegetative state (long-term coma)

When to Contact a Medical Professional

Call your health care provider if:

Your child develops symptoms of X-linked adrenoleukodystrophy

Your child has X-linked adrenoleukodystrophy and is getting worse

Prevention

Genetic counseling is recommended for prospective parents with a family history of X-linked adrenoleukodystrophy. Female carriers can be diagnosed 85% of the time using a very-long-chain fatty acid test and a DNA probe study done by specialized laboratories.

Neonatal adrenoleukodystrophy - illustration

NALD is an inheritable disorder that affects the adrenal glands, the white matter of the brain and the testes. Some of the symptoms for this disorder include seizures, hyperactivity, crossed eyes, paralysis, hearing loss, and muscular weakness.

Neonatal adrenoleukodyst...

illustration

Neonatal adrenoleukodystrophy - illustration

NALD is an inheritable disorder that affects the adrenal glands, the white matter of the brain and the testes. Some of the symptoms for this disorder include seizures, hyperactivity, crossed eyes, paralysis, hearing loss, and muscular weakness.